These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 3372508)

  • 21. Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.
    Wallis GA; Starman BJ; Schwartz MF; Byers PH
    J Biol Chem; 1990 Oct; 265(30):18628-33. PubMed ID: 2211725
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.
    Lightfoot SJ; Atkinson MS; Murphy G; Byers PH; Kadler KE
    J Biol Chem; 1994 Dec; 269(48):30352-7. PubMed ID: 7982948
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.
    Chessler SD; Wallis GA; Byers PH
    J Biol Chem; 1993 Aug; 268(24):18218-25. PubMed ID: 8349697
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.
    Culbert AA; Lowe MP; Atkinson M; Byers PH; Wallis GA; Kadler KE
    Biochem J; 1995 Nov; 311 ( Pt 3)(Pt 3):815-20. PubMed ID: 7487936
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.
    Cohn DH; Apone S; Eyre DR; Starman BJ; Andreassen P; Charbonneau H; Nicholls AC; Pope FM; Byers PH
    J Biol Chem; 1988 Oct; 263(29):14605-7. PubMed ID: 3170557
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
    Marini JC; Grange DK; Gottesman GS; Lewis MB; Koeplin DA
    J Biol Chem; 1989 Jul; 264(20):11893-900. PubMed ID: 2745420
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
    Willing MC; Cohn DH; Byers PH
    J Clin Invest; 1990 Jan; 85(1):282-90. PubMed ID: 2295701
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta.
    Pace JM; Kuslich CD; Willing MC; Byers PH
    J Med Genet; 2001 Jul; 38(7):443-9. PubMed ID: 11432962
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
    Zhuang JP; Constantinou CD; Ganguly A; Prockop DJ
    Am J Hum Genet; 1991 Jun; 48(6):1186-91. PubMed ID: 2035536
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Phenotypic heterogeneity in osteogenesis imperfecta: the mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for alpha 1-glycine 904 in a type I procollagen gene (COL1A1).
    Constantinou CD; Pack M; Young SB; Prockop DJ
    Am J Hum Genet; 1990 Oct; 47(4):670-9. PubMed ID: 2220807
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix.
    Baldwin CT; Constantinou CD; Dumars KW; Prockop DJ
    J Biol Chem; 1989 Feb; 264(5):3002-6. PubMed ID: 2914942
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix.
    Tsuneyoshi T; Westerhausen A; Constantinou CD; Prockop DJ
    J Biol Chem; 1991 Aug; 266(24):15608-13. PubMed ID: 1874719
    [TBL] [Abstract][Full Text] [Related]  

  • 33. An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta.
    Forlino A; Keene DR; Schmidt K; Marini JC
    Matrix Biol; 1998 Dec; 17(8-9):575-84. PubMed ID: 9923651
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.
    Cohn DH; Zhang X; Byers PH
    Hum Mutat; 1993; 2(1):21-7. PubMed ID: 8097422
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.
    Bateman JF; Moeller I; Hannagan M; Chan D; Cole WG
    Hum Mutat; 1992; 1(1):55-62. PubMed ID: 1284475
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain.
    Valli M; Sangalli A; Rossi A; Mottes M; Forlino A; Tenni R; Pignatti PF; Cetta G
    Eur J Biochem; 1993 Feb; 211(3):415-9. PubMed ID: 7679635
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.
    Lamande SR; Dahl HH; Cole WG; Bateman JF
    J Biol Chem; 1989 Sep; 264(27):15809-12. PubMed ID: 2777764
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.
    de Vries WN; de Wet WJ
    J Biol Chem; 1986 Jul; 261(19):9056-64. PubMed ID: 3722186
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
    Barsh GS; Byers PH
    Proc Natl Acad Sci U S A; 1981 Aug; 78(8):5142-6. PubMed ID: 6946461
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.
    Wang Q; Forlino A; Marini JC
    J Biol Chem; 1996 Nov; 271(45):28617-23. PubMed ID: 8910493
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.